ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

PIK3R1

Full Name:

phosphoinositide-3-kinase, regulatory subunit 1 (alpha)

Alias:

GRB1|p85|p85-ALPHA

Organism:

Homo sapiens (Human)

Chromosome:

Genetic Location:

5q13.1

Physical Location:

67558217-67633404 on NC_000005.8

Gene Type:

protein-coding

Orthologs:

This gene has Rat: 25513 ortholog(s) in other dataset(s).

Gene in Ethanol Study Datasets

Gene Information

Original ID1:

PIK3R1

Dataset Information

Name:		Literature Search
Method:		Literature search
Summary:		We search all human protein coding gene names and the keywords Alcohol or Ethanol or Alcoholism in the title or abstract of all PUBMED publications. For those gene name less than 3 characters or search result hits more than 100, we use the full name to search again and manually check the results to reduce false positive.

Gene Information

Original ID	No. of Publications	Phenotype
PIK3R1	1	Alcoholism

HuGE Navigator Dataset

Name:		HuGE Navigator
Method:		Literature data mining
Publication:		Wei Yu, Melinda Clyne, Anja Wulf, Ajay Yesupriya, Marta Gwinn and Muin J. Khoury. Phenopedia. HuGE Navigator. Available at: http://www.hugenavigator.net/HuGENavigator/startPagePhenoPedia.do. Accessed [Jun. 10, 2008].
Summary:		HuGE Navigator Phenopedia provides a disease-centered view of genetic association studies summarized in the online Human Genome Epidemiology (HuGE) encyclopedia. We extracted genes associated to 9 Alcohol-related diseases (Alcohol Amnestic Disorder; Alcohol Withdrawal Delirium; Alcohol Withdrawal Seizures; Alcohol-Induced Disorders; Alcohol-Induced Disorders, Nervous System; Alcohol-Related Disorders; Alcoholic Intoxication; Alcoholic Neuropathy; Alcoholism) from HuGE Navigator Phenopedia.

Linkage Dataset

Marker

LOD

P value

Location (bp)

D5S647

66282906

Region:		66282906-76193808
Phenotype:		Alcoholism phenotype along with age, gender, and P300 or constraint
Name:		15211641
Method:		Linkage
Publication:		Hill et al. Am J Med Genet B Neuropsychiatr Genet. (2004) A genome wide search for alcoholism susceptibility genes. PubMed
Summary:		A total of 360 markers for 22 autosomes were spaced at an average distance of 9.4cMand genotyping performed for 330 members of these multiplex families. Extensive clinical data, personality variation, and event-related potential characteristics were available for reducing heterogeneity and detecting robust linkage signals. Multipoint linkage analysis using different analytic strategies give strong support for loci on chromosomes 1, 2, 6, 7, 10, 12, 14, 16, and 17. Thirty five markers with LOD score >2.0 at baseline using the binary alcoholism phenotype along with age, gender, and P300 or constraint (Table III). Here we listed the genes between two near markers or genes near a separate marker (within 2Mb).

Gene Refseq Sequence Annotation

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0005622	intracellular	Cellular Component	IEA
GO:0005829	cytosol	Cellular Component	EXP (9356464\|10648629\|11606067\|12167717\|12660731)
GO:0005943	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	Cellular Component	ISS
GO:0005158	insulin receptor binding	Molecular Function	IPI (7537849\|8276809)
GO:0043125	ErbB-3 class receptor binding	Molecular Function	IDA (10572067)
GO:0035014	phosphoinositide 3-kinase regulator activity	Molecular Function	ISS
GO:0019903	protein phosphatase binding	Molecular Function	IPI (14699157)
GO:0043560	insulin receptor substrate binding	Molecular Function	ISS
GO:0043559	insulin binding	Molecular Function	IDA (8440175)
GO:0005545	phosphatidylinositol binding	Molecular Function	NAS
GO:0005159	insulin-like growth factor receptor binding	Molecular Function	IPI (7541045)
GO:0046854	phosphoinositide phosphorylation	Biological Process	ISS
GO:0008286	insulin receptor signaling pathway	Biological Process	IPI (8276809)
GO:0007242	intracellular signaling cascade	Biological Process	NAS
GO:0048009	insulin-like growth factor receptor signaling pathway	Biological Process	IPI (7541045)